Variant report

Variant	rs4393380
Chromosome Location	chr12:48336311-48336312
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48290096..48306593-chr12:48332606..48350271,44	MCF-7	breast:
2	chr12:48336245..48336757-chr12:48583257..48583914,2	K562	blood:
3	chr12:48336001..48336747-chr12:48558620..48559352,3	K562	blood:
4	chr12:48297838..48300182-chr12:48335522..48337383,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111424	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1015390	0.83[EUR][1000 genomes]
rs4073729	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4583039	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv3423120	chr12:48335210-48338058	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48328400-48337800	Enhancers	Fetal Heart	heart
2	chr12:48332600-48339600	Weak transcription	NHDF-Ad	bronchial
3	chr12:48332800-48337400	Weak transcription	HMEC	breast
4	chr12:48332800-48337400	Weak transcription	NHEK	skin
5	chr12:48332800-48340200	Weak transcription	Right Atrium	heart
6	chr12:48333000-48339200	Weak transcription	HSMM	muscle
7	chr12:48333800-48337000	Weak transcription	Hela-S3	cervix
8	chr12:48334000-48336800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:48334200-48336600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:48334400-48336400	Weak transcription	Colonic Mucosa	Colon
11	chr12:48335000-48336400	Enhancers	Duodenum Mucosa	Duodenum
12	chr12:48335000-48337000	Bivalent Enhancer	Fetal Stomach	stomach
13	chr12:48335200-48336600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:48335200-48337000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:48335200-48337000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr12:48335200-48337600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr12:48335600-48337000	Enhancers	Placenta	Placenta
18	chr12:48335800-48336600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:48335800-48336600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr12:48335800-48336600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr12:48335800-48336600	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr12:48335800-48336600	Enhancers	Right Ventricle	heart
23	chr12:48335800-48337000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:48335800-48338200	Enhancers	Spleen	Spleen
25	chr12:48335800-48346000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr12:48336000-48336400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:48336000-48336400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:48336000-48336400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:48336000-48336600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
30	chr12:48336000-48336600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:48336000-48336600	Bivalent Enhancer	Fetal Lung	lung
32	chr12:48336000-48336800	Bivalent Enhancer	Stomach Mucosa	stomach
33	chr12:48336000-48337000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:48336000-48337800	Enhancers	Pancreas	Pancrea
35	chr12:48336000-48338800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:48336000-48339200	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr12:48336200-48336400	Enhancers	Small Intestine	intestine
38	chr12:48336200-48336600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:48336200-48336600	Weak transcription	HSMMtube	muscle
40	chr12:48336200-48337000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
41	chr12:48336200-48337200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:48336200-48338000	Enhancers	Fetal Intestine Small	intestine
43	chr12:48336200-48338200	Enhancers	Fetal Intestine Large	intestine
44	chr12:48336200-48340200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:48336200-48340400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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